ClinVar Miner

List of variants reported as pathogenic for Ornithine carbamoyltransferase deficiency by Molecular Genetics laboratory, Necker Hospital

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000531.5:c.(386+1_387-1)_(1005+1_1006-1)del
NM_000531.6(OTC):c.1009G>T (p.Val337Phe) rs72558487
NM_000531.6(OTC):c.1015G>A (p.Val339Met) rs72558488
NM_000531.6(OTC):c.1052del (p.Lys351fs) rs2068592875
NM_000531.6(OTC):c.116G>C (p.Gly39Ala) rs1602014500
NM_000531.6(OTC):c.128T>C (p.Leu43Pro) rs2068301622
NM_000531.6(OTC):c.214G>A (p.Glu72Lys) rs2068302412
NM_000531.6(OTC):c.217-2A>G rs2068314699
NM_000531.6(OTC):c.298+1del rs2068315570
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.298G>T (p.Gly100Cys) rs2068315546
NM_000531.6(OTC):c.327T>A (p.Cys109Ter) rs2068375565
NM_000531.6(OTC):c.473C>T (p.Pro158Leu) rs2068485732
NM_000531.6(OTC):c.488T>G (p.Leu163Arg) rs2068486155
NM_000531.6(OTC):c.568dup (p.Thr190fs) rs2068501144
NM_000531.6(OTC):c.584G>C (p.Gly195Ala) rs2068501410
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.635G>T (p.Gly212Val) rs2068502421
NM_000531.6(OTC):c.652G>C (p.Ala218Pro) rs2068502738
NM_000531.6(OTC):c.740C>G (p.Thr247Arg) rs72558437
NM_000531.6(OTC):c.766G>T (p.Gly256Ter) rs2068529566
NM_000531.6(OTC):c.77+5G>C rs72552302
NM_000531.6(OTC):c.944T>C (p.Val315Ala) rs67414444
NM_000531.6(OTC):c.946T>G (p.Phe316Val) rs2068545602

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